Incidental Mutation 'IGL01617:Aass'
ID92428
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Aass
Ensembl Gene ENSMUSG00000029695
Gene Nameaminoadipate-semialdehyde synthase
SynonymsLOR/SDH, Lorsdh
Accession Numbers

NCBI RefSeq: NM_013930.4; MGI:1353573

Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01617
Quality Score
Status
Chromosome6
Chromosomal Location23072173-23132986 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 23115150 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 160 (I160F)
Ref Sequence ENSEMBL: ENSMUSP00000031707 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031707] [ENSMUST00000149864]
Predicted Effect possibly damaging
Transcript: ENSMUST00000031707
AA Change: I160F

PolyPhen 2 Score 0.886 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000031707
Gene: ENSMUSG00000029695
AA Change: I160F

DomainStartEndE-ValueType
low complexity region 2 20 N/A INTRINSIC
AlaDh_PNT_N 27 157 2.76e-22 SMART
AlaDh_PNT_C 197 399 7.94e-23 SMART
Pfam:Sacchrp_dh_NADP 483 598 2.8e-26 PFAM
Pfam:Sacchrp_dh_C 602 916 1.2e-88 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138063
Predicted Effect probably benign
Transcript: ENSMUST00000149864
SMART Domains Protein: ENSMUSP00000115079
Gene: ENSMUSG00000029695

DomainStartEndE-ValueType
Pfam:Saccharop_dh 73 209 8.2e-45 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152280
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a bifunctional mitochondrial protein that catalyzes the first two steps in the lysine degradation pathway. The N-terminus contains lysine-ketoglutarate reductase activity and converts lysine to saccharopine, whereas the C-terminus contains saccharopine dehydrogenase activity and converts saccharopine to alpha-aminoadipate semialdehyde. Mutations in a human gene encoding a highly similar protein are associated with familial hyperlysinemia. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(10) : Targeted(2) Gene trapped(8

Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
BC037034 A T 5: 138,262,216 L47Q probably damaging Het
Cacna1d C T 14: 30,102,371 A1030T probably damaging Het
Ceacam13 A T 7: 18,011,383 D126V possibly damaging Het
Cep68 G T 11: 20,239,510 Q501K probably benign Het
Cfhr1 A T 1: 139,553,679 C154* probably null Het
Chd3 A G 11: 69,358,234 probably benign Het
Chrna5 A G 9: 55,005,013 M262V probably damaging Het
Csrnp2 T C 15: 100,484,643 Y172C probably benign Het
Dzip1 G T 14: 118,881,065 P752Q probably benign Het
Frem1 G A 4: 82,936,139 T1630I probably benign Het
Gabrr1 G A 4: 33,162,634 S400N probably benign Het
Hmcn1 C T 1: 150,672,032 A2723T probably benign Het
Htt A G 5: 34,876,755 H1895R possibly damaging Het
Kif21a T C 15: 90,995,637 probably benign Het
Mitf A G 6: 97,996,428 I241V probably benign Het
Mterf1b A T 5: 4,196,503 D48V probably benign Het
Nmbr G T 10: 14,770,429 R349M probably benign Het
Pik3r4 T C 9: 105,654,965 S579P probably benign Het
Polr2i T C 7: 30,232,392 F16S possibly damaging Het
Psmg2 G A 18: 67,653,223 V218I probably benign Het
Rgs11 A G 17: 26,208,250 H385R probably damaging Het
Rufy4 G A 1: 74,129,354 G99R probably damaging Het
Slc29a1 A G 17: 45,589,449 F185S probably benign Het
Spag17 G A 3: 100,109,508 V2200I possibly damaging Het
Ttc7b G T 12: 100,385,956 A414D possibly damaging Het
Ugt2b37 A T 5: 87,251,879 W257R probably damaging Het
Ythdc2 A G 18: 44,841,415 I381M possibly damaging Het
Other mutations in Aass
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00916:Aass APN 6 23075852 missense probably benign 0.10
IGL01465:Aass APN 6 23114839 critical splice donor site probably null
IGL01810:Aass APN 6 23107634 missense probably damaging 0.99
IGL02024:Aass APN 6 23113706 missense probably damaging 1.00
IGL02167:Aass APN 6 23122722 intron probably benign
IGL02339:Aass APN 6 23093966 missense probably damaging 0.99
IGL02720:Aass APN 6 23122703 intron probably benign
IGL02877:Aass APN 6 23078876 nonsense probably null
IGL02948:Aass APN 6 23094319 splice site probably benign
PIT4651001:Aass UTSW 6 23118751 missense probably benign 0.00
R0152:Aass UTSW 6 23074689 missense probably damaging 1.00
R0196:Aass UTSW 6 23109520 missense probably damaging 1.00
R0546:Aass UTSW 6 23077077 critical splice donor site probably null
R0841:Aass UTSW 6 23075811 missense probably benign
R0848:Aass UTSW 6 23114985 missense probably damaging 0.98
R0942:Aass UTSW 6 23075152 splice site probably benign
R1082:Aass UTSW 6 23093908 missense probably damaging 1.00
R1159:Aass UTSW 6 23115138 missense probably damaging 0.99
R1730:Aass UTSW 6 23121019 missense probably damaging 1.00
R1818:Aass UTSW 6 23075858 critical splice acceptor site probably null
R1906:Aass UTSW 6 23072985 missense probably benign 0.00
R2004:Aass UTSW 6 23092562 nonsense probably null
R2191:Aass UTSW 6 23078866 missense possibly damaging 0.91
R3690:Aass UTSW 6 23091329 missense probably benign 0.09
R3843:Aass UTSW 6 23092496 nonsense probably null
R3879:Aass UTSW 6 23122521 missense probably damaging 1.00
R4080:Aass UTSW 6 23109498 missense possibly damaging 0.83
R4081:Aass UTSW 6 23109498 missense possibly damaging 0.83
R4082:Aass UTSW 6 23109498 missense possibly damaging 0.83
R4348:Aass UTSW 6 23113739 missense probably benign 0.03
R4622:Aass UTSW 6 23092330 missense probably damaging 1.00
R4701:Aass UTSW 6 23075856 nonsense probably null
R4823:Aass UTSW 6 23107691 missense probably benign
R5108:Aass UTSW 6 23094208 missense probably damaging 0.99
R5248:Aass UTSW 6 23109438 missense probably benign 0.08
R5481:Aass UTSW 6 23113476 missense probably benign 0.00
R5776:Aass UTSW 6 23107650 missense possibly damaging 0.66
R5883:Aass UTSW 6 23072994 missense probably benign 0.04
R6356:Aass UTSW 6 23093902 missense probably damaging 1.00
R6594:Aass UTSW 6 23113433 missense probably benign 0.00
R6784:Aass UTSW 6 23093896 missense probably null 1.00
R6855:Aass UTSW 6 23114845 missense probably damaging 0.97
R7184:Aass UTSW 6 23094220 missense possibly damaging 0.55
R7208:Aass UTSW 6 23074630 missense probably damaging 0.99
R7464:Aass UTSW 6 23077153 missense possibly damaging 0.69
R7750:Aass UTSW 6 23075200 missense possibly damaging 0.58
R7821:Aass UTSW 6 23120930 missense probably damaging 1.00
R8262:Aass UTSW 6 23107710 missense possibly damaging 0.94
R8303:Aass UTSW 6 23092368 missense probably benign 0.03
R8430:Aass UTSW 6 23078982 missense probably benign 0.01
R8817:Aass UTSW 6 23097196 nonsense probably null
Z1176:Aass UTSW 6 23078857 missense probably damaging 1.00
Posted On2013-12-09